UniProtKB - O15550 (KDM6A_HUMAN)

BLAST

>sp|O15550|KDM6A_HUMAN Lysine-specific demethylase 6A OS=Homo sapiens OX=9606 GN=KDM6A PE=1 SV=2
MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFV
RFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLLLEDYPKALSAYQRYY
SLQSDYWKNAAFLYGLGLVYFHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVN
TDYESSLKHFQLALVDCNPCTLSNAEIQFHIAHLYETQRKYHSAKEAYEQLLQTENLSAQ
VKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKV
QDAFISYRQSIDKSEASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGT
LYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE
EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQL
RANRNNLNPAQKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPNGPTADSSLPTNSVSG
QQPQLALTRVPSVSQPGVRPACPGQPLANGPFSAGHVPCSTSRTLGSTDTILIGNNHITG
SGSNGNVPYLQRNALTLPHNRTNLTSSAEEPWKNQLSNSTQGLHKGQSSHSAGPNGERPL
SSTGPSQHLQAAGSGIQNQNGHPTLPSNSVTQGAALNHLSSHTATSGGQQGITLTKESKP
SGNILTVPETSRHTGETPNSTASVEGLPNHVHQMTADAVCSPSHGDSKSPGLLSSDNPQL
SALLMGKANNNVGTGTCDKVNNIHPAVHTKTDNSVASSPSSAISTATPSPKSTEQTTTNS
VTSLNSPHSGLHTINGEGMEESQSPMKTDLLLVNHKPSPQIIPSMSVSIYPSSAEVLKAC
RNLGKNGLSNSSILLDKCPPPRPPSSPYPPLPKDKLNPPTPSIYLENKRDAFFPPLHQFC
TNPNNPVTVIRGLAGALKLDLGLFSTKTLVEANNEHMVEVRTQLLQPADENWDPTGTKKI
WHCESNRSHTTIAKYAQYQASSFQESLREENEKRSHHKDHSDSESTSSDNSGRRRKGPFK
TIKFGTNIDLSDDKKWKLQLHELTKLPAFVRVVSAGNLLSHVGHTILGMNTVQLYMKVPG
SRTPGHQENNNFCSVNINIGPGDCEWFVVPEGYWGVLNDFCEKNNLNFLMGSWWPNLEDL
YEANVPVYRFIQRPGDLVWINAGTVHWVQAIGWCNNIAWNVGPLTACQYKLAVERYEWNK
LQSVKSIVPMVHLSWNMARNIKVSDPKLFEMIKYCLLRTLKQCQTLREALIAAGKEIIWH
GRTKEEPAHYCSICEVEVFDLLFVTNESNSRKTYIVHCQDCARKTSGNLENFVVLEQYKM
EDLMQVYDQFTLAPPLPSASS

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History
Entry version 182 (07 Nov 2018)
Sequence version 2 (23 Sep 2008)
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Protein

Lysine-specific demethylase 6A

Gene

KDM6A

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity).By similarity4 Publications

Miscellaneous

Escapes X chromosome inactivation.

Cofactorⁱ

Protein has several cofactor binding sites:

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	1146	Iron1 Publication	1
Metal bindingⁱ	1148	Iron1 Publication	1
Metal bindingⁱ	1226	Iron1 Publication	1
Metal bindingⁱ	1331	Zinc1 Publication	1
Metal bindingⁱ	1334	Zinc1 Publication	1
Metal bindingⁱ	1358	Zinc1 Publication	1
Metal bindingⁱ	1361	Zinc1 Publication	1

GO - Molecular functionⁱ

chromatin binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
chromatin DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
dioxygenase activity Source: UniProtKB-KW
histone demethylase activity Source: Reactome
histone demethylase activity (H3-K27 specific)
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
identical protein binding Source: Ensembl
metal ion binding Source: UniProtKB-KW
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

canonical Wnt signaling pathway Source: Ensembl
cardiovascular system development Source: Ensembl
chromatin remodeling Source: UniProtKB
heart morphogenesis Source: Ensembl
histone H3-K4 methylation
Source: UniProtKB
Inferred from sequence or structural similarityⁱ
- 17178841
in utero embryonic development Source: Ensembl
mesodermal cell differentiation Source: Ensembl
multicellular organism growth Source: Ensembl
neural tube closure Source: Ensembl
notochord morphogenesis Source: Ensembl
positive regulation of gene expression Source: Ensembl
respiratory system process Source: Ensembl
somite rostral/caudal axis specification Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Chromatin regulator, Dioxygenase, Oxidoreductase
Ligand	Iron, Metal-binding, Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3214842 HDMs demethylate histones R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

Reactomeⁱ

R-HSA-3214842 HDMs demethylate histones
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Lysine-specific demethylase 6A (EC:1.14.11.-4 Publications) Alternative name(s): Histone demethylase UTX Ubiquitously-transcribed TPR protein on the X chromosome Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein
Gene namesⁱ	Name:KDM6A Synonyms:UTX
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000147050.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:12637 KDM6A
MIMⁱ	300128 gene
neXtProtⁱ	NX_O15550

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Kabuki syndrome 2 (KABUK2)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	1146	H → A: Abolishes histone demethylase activity. 3 Publications		1

Keywords - Diseaseⁱ

Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7403
GeneReviewsⁱ	KDM6A
MalaCards human disease database More...MalaCardsⁱ	KDM6A
MIMⁱ	300867 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000147050
Orphanetⁱ	2322 Kabuki syndrome
PharmGKBⁱ	PA37262

Chemistry databases

ChEMBLⁱ	CHEMBL2069164
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	2684

Polymorphism and mutation databases

BioMutaⁱ	KDM6A

BioMutaⁱ

KDM6A

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000106409	1 – 1401	Lysine-specific demethylase 6AAdd BLAST		1401

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	519	Omega-N-methylarginineBy similarity	1
Modified residueⁱ	549	Omega-N-methylarginineBy similarity	1
Modified residueⁱ	769	PhosphoserineCombined sources	1
Modified residueⁱ	827	PhosphothreonineBy similarity	1
Modified residueⁱ	829	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Methylation, Phosphoprotein

Proteomic databases

EPDⁱ	O15550
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O15550
PaxDbⁱ	O15550
PeptideAtlas More...PeptideAtlasⁱ	O15550
PRIDEⁱ	O15550
ProteomicsDBⁱ	48752

PTM databases

iPTMnetⁱ	O15550
PhosphoSitePlusⁱ	O15550

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000147050 Expressed in 223 organ(s), highest expression level in kidney
CleanExⁱ	HS_UTX
ExpressionAtlasⁱ	O15550 baseline and differential
Genevisibleⁱ	O15550 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA000568 HPA001165 HPA002111

HPAⁱ

HPA000568
HPA001165
HPA002111

Interactionⁱ

Subunit structureⁱ

Interacts with TLE1 (By similarity). Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A (or KDM6B), PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:17500065, PubMed:17713478). Interacts with SUPT6H. Interacts with SMARCA4 (By similarity).By similarity2 Publications

GO - Molecular functionⁱ

identical protein binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	113246, 35 interactors
CORUMⁱ	O15550
Database of interacting proteins More...DIPⁱ	DIP-46192N
IntActⁱ	O15550, 19 interactors
Molecular INTeraction database More...MINTⁱ	O15550
STRINGⁱ	9606.ENSP00000367203

Chemistry databases

BindingDBⁱ

O15550

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	893 – 900	Combined sources	8
Helixⁱ	933 – 935	Combined sources	3
Beta strandⁱ	942 – 944	Combined sources	3
Helixⁱ	948 – 951	Combined sources	4
Helixⁱ	954 – 961	Combined sources	8
Beta strandⁱ	966 – 971	Combined sources	6
Helixⁱ	973 – 977	Combined sources	5
Helixⁱ	981 – 984	Combined sources	4
Helixⁱ	986 – 992	Combined sources	7
Beta strandⁱ	997 – 1004	Combined sources	8
Beta strandⁱ	1016 – 1019	Combined sources	4
Beta strandⁱ	1025 – 1031	Combined sources	7
Helixⁱ	1032 – 1045	Combined sources	14
Beta strandⁱ	1081 – 1089	Combined sources	9
Turnⁱ	1093 – 1096	Combined sources	4
Helixⁱ	1097 – 1102	Combined sources	6
Helixⁱ	1103 – 1105	Combined sources	3
Helixⁱ	1108 – 1110	Combined sources	3
Helixⁱ	1118 – 1121	Combined sources	4
Beta strandⁱ	1122 – 1124	Combined sources	3
Turnⁱ	1127 – 1129	Combined sources	3
Beta strandⁱ	1133 – 1137	Combined sources	5
Beta strandⁱ	1142 – 1146	Combined sources	5
Helixⁱ	1149 – 1151	Combined sources	3
Beta strandⁱ	1153 – 1162	Combined sources	10
Beta strandⁱ	1164 – 1169	Combined sources	6
Helixⁱ	1171 – 1173	Combined sources	3
Helixⁱ	1174 – 1183	Combined sources	10
Turnⁱ	1188 – 1190	Combined sources	3
Helixⁱ	1197 – 1202	Combined sources	6
Beta strandⁱ	1208 – 1212	Combined sources	5
Beta strandⁱ	1217 – 1220	Combined sources	4
Beta strandⁱ	1225 – 1241	Combined sources	17
Beta strandⁱ	1243 – 1245	Combined sources	3
Helixⁱ	1246 – 1262	Combined sources	17
Helixⁱ	1270 – 1280	Combined sources	11
Helixⁱ	1286 – 1312	Combined sources	27
Beta strandⁱ	1317 – 1319	Combined sources	3
Turnⁱ	1332 – 1334	Combined sources	3
Beta strandⁱ	1340 – 1346	Combined sources	7
Beta strandⁱ	1351 – 1357	Combined sources	7
Helixⁱ	1359 – 1365	Combined sources	7
Beta strandⁱ	1373 – 1376	Combined sources	4
Helixⁱ	1380 – 1388	Combined sources	9

Show more details

3D structure databases

ProteinModelPortalⁱ	O15550
SMRⁱ	O15550
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	93 – 126	TPR 1Add BLAST	34
Repeatⁱ	130 – 163	TPR 2Add BLAST	34
Repeatⁱ	170 – 199	TPR 3Add BLAST	30
Repeatⁱ	205 – 238	TPR 4Add BLAST	34
Repeatⁱ	250 – 283	TPR 5Add BLAST	34
Repeatⁱ	284 – 317	TPR 6Add BLAST	34
Repeatⁱ	318 – 351	TPR 7Add BLAST	34
Repeatⁱ	352 – 385	TPR 8Add BLAST	34
Domainⁱ	1095 – 1258	JmjCPROSITE-ProRule annotationAdd BLAST	164

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1 – 1095	Interaction with SUPT6HBy similarityAdd BLAST		1095

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	9 – 17	Poly-Ala		9

Sequence similaritiesⁱ

Belongs to the UTX family.Curated

Keywords - Domainⁱ

Repeat, TPR repeat

Phylogenomic databases

eggNOGⁱ	KOG1124 Eukaryota KOG1246 Eukaryota COG0457 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00410000025758
InParanoidⁱ	O15550
KEGG Orthology (KO) More...KOⁱ	K11447
PhylomeDBⁱ	O15550
TreeFamⁱ	TF317405

Family and domain databases

Gene3Dⁱ	1.25.40.10, 2 hits
InterProⁱ	View protein in InterPro IPR003347 JmjC_dom IPR029516 KDM6C IPR013026 TPR-contain_dom IPR011990 TPR-like_helical_dom_sf IPR019734 TPR_repeat
PANTHERⁱ	PTHR14017:SF9 PTHR14017:SF9, 2 hits
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02373 JmjC, 1 hit PF13181 TPR_8, 1 hit
SMARTⁱ	View protein in SMART SM00558 JmjC, 1 hit SM00028 TPR, 6 hits
SUPFAMⁱ	SSF48452 SSF48452, 2 hits
PROSITEⁱ	View protein in PROSITE PS51184 JMJC, 1 hit PS50005 TPR, 7 hits PS50293 TPR_REGION, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show all Align All

O15550-1 [UniParc]FASTA Add to basket

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        10         20         30         40         50
MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG 
        60         70         80         90        100
GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG 
       110        120        130        140        150
HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI 
       160        170        180        190        200
KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC 
       210        220        230        240        250
TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG 
       260        270        280        290        300
WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV 
       310        320        330        340        350
QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG 
       360        370        380        390        400
HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQAQ 
       410        420        430        440        450
LCNLPQGSLQ NKTKLLPSIE EAWSLPIPAE LTSRQGAMNT AQQNTSDNWS 
       460        470        480        490        500
GGHAVSHPPV QQQAHSWCLT PQKLQHLEQL RANRNNLNPA QKLMLEQLES 
       510        520        530        540        550
QFVLMQQHQM RPTGVAQVRS TGIPNGPTAD SSLPTNSVSG QQPQLALTRV 
       560        570        580        590        600
PSVSQPGVRP ACPGQPLANG PFSAGHVPCS TSRTLGSTDT ILIGNNHITG 
       610        620        630        640        650
SGSNGNVPYL QRNALTLPHN RTNLTSSAEE PWKNQLSNST QGLHKGQSSH 
       660        670        680        690        700
SAGPNGERPL SSTGPSQHLQ AAGSGIQNQN GHPTLPSNSV TQGAALNHLS 
       710        720        730        740        750
SHTATSGGQQ GITLTKESKP SGNILTVPET SRHTGETPNS TASVEGLPNH 
       760        770        780        790        800
VHQMTADAVC SPSHGDSKSP GLLSSDNPQL SALLMGKANN NVGTGTCDKV 
       810        820        830        840        850
NNIHPAVHTK TDNSVASSPS SAISTATPSP KSTEQTTTNS VTSLNSPHSG 
       860        870        880        890        900
LHTINGEGME ESQSPMKTDL LLVNHKPSPQ IIPSMSVSIY PSSAEVLKAC 
       910        920        930        940        950
RNLGKNGLSN SSILLDKCPP PRPPSSPYPP LPKDKLNPPT PSIYLENKRD 
       960        970        980        990       1000
AFFPPLHQFC TNPNNPVTVI RGLAGALKLD LGLFSTKTLV EANNEHMVEV 
      1010       1020       1030       1040       1050
RTQLLQPADE NWDPTGTKKI WHCESNRSHT TIAKYAQYQA SSFQESLREE 
      1060       1070       1080       1090       1100
NEKRSHHKDH SDSESTSSDN SGRRRKGPFK TIKFGTNIDL SDDKKWKLQL 
      1110       1120       1130       1140       1150
HELTKLPAFV RVVSAGNLLS HVGHTILGMN TVQLYMKVPG SRTPGHQENN 
      1160       1170       1180       1190       1200
NFCSVNINIG PGDCEWFVVP EGYWGVLNDF CEKNNLNFLM GSWWPNLEDL 
      1210       1220       1230       1240       1250
YEANVPVYRF IQRPGDLVWI NAGTVHWVQA IGWCNNIAWN VGPLTACQYK 
      1260       1270       1280       1290       1300
LAVERYEWNK LQSVKSIVPM VHLSWNMARN IKVSDPKLFE MIKYCLLRTL 
      1310       1320       1330       1340       1350
KQCQTLREAL IAAGKEIIWH GRTKEEPAHY CSICEVEVFD LLFVTNESNS 
      1360       1370       1380       1390       1400
RKTYIVHCQD CARKTSGNLE NFVVLEQYKM EDLMQVYDQF TLAPPLPSAS 

S

Length:1,401

Mass (Da):154,177

Last modified:September 23, 2008 - v2

Checksum:ⁱ9DD7EA6C61E79229

Computationally mapped potential isoform sequencesⁱ

There are 9 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A087X0R0	A0A087X0R0_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	1,429	Annotation score:
F5H6S1	F5H6S1_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	1,332	Annotation score:
A0A087WUN6	A0A087WUN6_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	224	Annotation score:
F8W8R6	F8W8R6_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	1,384	Annotation score:
F5H5V6	F5H5V6_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	1,269	Annotation score:
H0Y6I7	H0Y6I7_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	999	Annotation score:
H0Y5J3	H0Y5J3_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	1,044	Annotation score:
H7C1F1	H7C1F1_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	224	Annotation score:
H0Y6V5	H0Y6V5_HUMAN	Lysine-specific demethylase 6A Lysine-specific demethylase 6A	KDM6A	161	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	173	L → V in AAC51839 (PubMed:9381176).Curated	1
Sequence conflictⁱ	173	L → V in AAC51840 (PubMed:9381176).Curated	1
Sequence conflictⁱ	585	L → R in AAC51839 (PubMed:9381176).Curated	1
Sequence conflictⁱ	585	L → R in AAC51840 (PubMed:9381176).Curated	1
Sequence conflictⁱ	601	S → N in AAC51839 (PubMed:9381176).Curated	1
Sequence conflictⁱ	601	S → N in AAC51840 (PubMed:9381176).Curated	1
Sequence conflictⁱ	629	E → K in AAC51839 (PubMed:9381176).Curated	1
Sequence conflictⁱ	629	E → K in AAC51840 (PubMed:9381176).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_014492	30	A → T. Corresponds to variant dbSNP:rs6529EnsemblClinVar.	1
Natural variantⁱVAR_067225	270	I → V in a patient with chronic myelomonocytic leukemia. 1 Publication	1
Natural variantⁱVAR_014493	497	Q → H. Corresponds to variant dbSNP:rs6530Ensembl.	1
Natural variantⁱVAR_046527	581	T → A. Corresponds to variant dbSNP:rs34922269EnsemblClinVar.	1
Natural variantⁱVAR_020313	726	T → K1 PublicationCorresponds to variant dbSNP:rs2230018EnsemblClinVar.	1
Natural variantⁱVAR_067226	834	E → D in a patient with chronic myelomonocytic leukemia. 1 Publication	1
Natural variantⁱVAR_067227	922	R → K in a patient with chronic myelomonocytic leukemia. 1 Publication	1
Natural variantⁱVAR_035871	1106	L → R in a colorectal cancer sample; somatic mutation. 1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF000992 mRNA Translation: AAC51839.1 AF000993 mRNA Translation: AAC51840.1 AC136488 Genomic DNA No translation available. AL133545 Genomic DNA No translation available. AL138744 Genomic DNA No translation available. CH471141 Genomic DNA Translation: EAW59368.1 BC093868 mRNA Translation: AAH93868.1 BC113381 mRNA Translation: AAI13382.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14265.1
PIRⁱ	T02255
NCBI Reference Sequences More...RefSeqⁱ	NP_066963.2, NM_021140.3
UniGeneⁱ	Hs.522616

Genome annotation databases

Ensemblⁱ	ENST00000377967; ENSP00000367203; ENSG00000147050
GeneIDⁱ	7403
KEGGⁱ	hsa:7403
UCSC genome browser More...UCSCⁱ	uc004dge.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O15550	Ubiquitously transcribed tetratricopeptide repeat variant (Fragment)		HUMAN		1406	UniRef100_O15550
KDM6A isoform 5		PANTR		1401
Uncharacterized protein		PANPA		1401
UPI0003E67773		PANTR		1226

Protein	Similar proteins		Species	Score	Length	Source
O15550	Lysine-specific demethylase 6A		MOUSE		1401	UniRef90_O70546
lysine-specific demethylase 6A isoform X2		PHYCD		1498
lysine-specific demethylase 6A isoform X4		Florida manatee		1444
Lysine demethylase 6A		LOXAF		1423
lysine-specific demethylase 6A isoform X3		DELLE		1422
+473

Protein	Similar proteins		Species	Score	Length	Source
O15550	Lysine-specific demethylase 6A		MOUSE		1401	UniRef50_O70546
Histone demethylase UTY	)	HUMAN		1347
lysine-specific demethylase 6A isoform X2		PHYCD		1498
lysine-specific demethylase 6A isoform X4		Florida manatee		1444
Lysine demethylase 6A		LOXAF		1423
+1886

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF000992 mRNA Translation: AAC51839.1 AF000993 mRNA Translation: AAC51840.1 AC136488 Genomic DNA No translation available. AL133545 Genomic DNA No translation available. AL138744 Genomic DNA No translation available. CH471141 Genomic DNA Translation: EAW59368.1 BC093868 mRNA Translation: AAH93868.1 BC113381 mRNA Translation: AAI13382.1
CCDSⁱ	CCDS14265.1
PIRⁱ	T02255
RefSeqⁱ	NP_066963.2, NM_021140.3
UniGeneⁱ	Hs.522616

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3AVR	X-ray	1.80	A	880-1401	[»]
	3AVS	X-ray	1.85	A	880-1401	[»]
ProteinModelPortalⁱ	O15550
SMRⁱ	O15550
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113246, 35 interactors
CORUMⁱ	O15550
DIPⁱ	DIP-46192N
IntActⁱ	O15550, 19 interactors
MINTⁱ	O15550
STRINGⁱ	9606.ENSP00000367203

Chemistry databases

BindingDBⁱ	O15550
ChEMBLⁱ	CHEMBL2069164
GuidetoPHARMACOLOGYⁱ	2684

PTM databases

iPTMnetⁱ	O15550
PhosphoSitePlusⁱ	O15550

Polymorphism and mutation databases

BioMutaⁱ	KDM6A

BioMutaⁱ

KDM6A

Proteomic databases

EPDⁱ	O15550
MaxQBⁱ	O15550
PaxDbⁱ	O15550
PeptideAtlasⁱ	O15550
PRIDEⁱ	O15550
ProteomicsDBⁱ	48752

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000377967; ENSP00000367203; ENSG00000147050
GeneIDⁱ	7403
KEGGⁱ	hsa:7403
UCSCⁱ	uc004dge.5 human

Organism-specific databases

CTDⁱ	7403
DisGeNETⁱ	7403
EuPathDBⁱ	HostDB:ENSG00000147050.14
GeneCardsⁱ	KDM6A
GeneReviewsⁱ	KDM6A
H-InvDBⁱ	HIX0019137
HGNCⁱ	HGNC:12637 KDM6A
HPAⁱ	HPA000568 HPA001165 HPA002111
MalaCardsⁱ	KDM6A
MIMⁱ	300128 gene 300867 phenotype
neXtProtⁱ	NX_O15550
OpenTargetsⁱ	ENSG00000147050
Orphanetⁱ	2322 Kabuki syndrome
PharmGKBⁱ	PA37262
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1124 Eukaryota KOG1246 Eukaryota COG0457 LUCA
GeneTreeⁱ	ENSGT00410000025758
InParanoidⁱ	O15550
KOⁱ	K11447
PhylomeDBⁱ	O15550
TreeFamⁱ	TF317405

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3214842 HDMs demethylate histones R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

Reactomeⁱ

R-HSA-3214842 HDMs demethylate histones
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

Miscellaneous databases

ChiTaRSⁱ	KDM6A human
GeneWikiⁱ	UTX_(gene)
GenomeRNAiⁱ	7403
Protein Ontology More...PROⁱ	PR:O15550
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000147050 Expressed in 223 organ(s), highest expression level in kidney
CleanExⁱ	HS_UTX
ExpressionAtlasⁱ	O15550 baseline and differential
Genevisibleⁱ	O15550 HS

Family and domain databases

Gene3Dⁱ	1.25.40.10, 2 hits
InterProⁱ	View protein in InterPro IPR003347 JmjC_dom IPR029516 KDM6C IPR013026 TPR-contain_dom IPR011990 TPR-like_helical_dom_sf IPR019734 TPR_repeat
PANTHERⁱ	PTHR14017:SF9 PTHR14017:SF9, 2 hits
Pfamⁱ	View protein in Pfam PF02373 JmjC, 1 hit PF13181 TPR_8, 1 hit
SMARTⁱ	View protein in SMART SM00558 JmjC, 1 hit SM00028 TPR, 6 hits
SUPFAMⁱ	SSF48452 SSF48452, 2 hits
PROSITEⁱ	View protein in PROSITE PS51184 JMJC, 1 hit PS50005 TPR, 7 hits PS50293 TPR_REGION, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KDM6A_HUMAN
Accessionⁱ	O15550Primary (citable) accession number: O15550 Secondary accession number(s): Q52LL9, Q5JVQ7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
	Last sequence update:	September 23, 2008
	Last modified:	November 7, 2018
	This is version 182 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - O15550 (KDM6A_HUMAN)

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Lysine-specific demethylase 6A

KDM6A

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

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GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ